Canonical Allele Identifier: CA401361056
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 932906
ClinVar RCV Id: RCV001200875
dbSNP Id: rs2039042313
MyVariant Identifiers: chr17:g.78078784C>A (hg19) chr17:g.80104985C>A (hg38)
ERepo: CA401361056/MONDO:0009290/010
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104985C>A , CM000679.2:g.80104985C>A GRCh38
NC_000017.10:g.78078784C>A , CM000679.1:g.78078784C>A GRCh37
NC_000017.9:g.75693379C>A NCBI36
NG_009822.1:g.8430C>A , LRG_673:g.8430C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.399C>A ENSP00000460543.2:p.Tyr133Ter
ENST00000572080.2:c.399C>A ENSP00000459972.2:p.Tyr133Ter
ENST00000577106.6:c.399C>A ENSP00000458306.2:p.Tyr133Ter
ENST00000302262.8:c.399C>A MANE Select ENSP00000305692.3:p.Tyr133Ter
ENST00000302262.7:c.399C>A ENSP00000305692.3:p.Tyr133Ter
ENST00000390015.7:c.399C>A ENSP00000374665.3:p.Tyr133Ter
ENST00000570803.5:c.399C>A ENSP00000460543.1:p.Tyr133Ter
ENST00000577106.5:c.399C>A ENSP00000458306.1:p.Tyr133Ter
NM_000152.3:c.399C>A , LRG_673t1:c.399C>A NP_000143.2:p.Tyr133Ter
NM_001079803.1:c.399C>A NP_001073271.1:p.Tyr133Ter
NM_001079804.1:c.399C>A NP_001073272.1:p.Tyr133Ter
XM_005257193.1:c.399C>A XP_005257250.1:p.Tyr133Ter
XM_005257194.3:c.399C>A XP_005257251.1:p.Tyr133Ter
NM_000152.4:c.399C>A NP_000143.2:p.Tyr133Ter
NM_001079803.2:c.399C>A NP_001073271.1:p.Tyr133Ter
NM_001079804.2:c.399C>A NP_001073272.1:p.Tyr133Ter
XM_005257193.2:c.399C>A XP_005257250.1:p.Tyr133Ter
XM_005257194.4:c.399C>A XP_005257251.1:p.Tyr133Ter
NM_000152.5:c.399C>A MANE Select NP_000143.2:p.Tyr133Ter
NM_001079803.3:c.399C>A NP_001073271.1:p.Tyr133Ter
NM_001079804.3:c.399C>A NP_001073272.1:p.Tyr133Ter
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